File:1-s2.0-S0960896621006052-gr1.jpg

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Description
English: Fig. 1. X-linked myotubular myopathy. (A) 1 year old boy with genetically confirmed XLMTM. Note the long, myopathic facies, bilateral ptosis and extremity muscle hypoplasia. There is evidence of multiple technology dependencies, including invasive ventilator support and G tube for feeding. (B) 8 year old with genetically confirmed XLMTM and typical clinical features of facial weakness, extremity muscle hypoplasia, and wheelchair and ventilator requirements. (C, D) Representative photomicrographs from a muscle biopsy of a boy with confirmed XLMTM. (C) Hematoxylin and eosin stain, showing myofiber hypotrophy and many fibers with prominent, centrally located nuclei, (D) NADH stain showing numerous fibers with accumulated perinuclear organelles. Scale bar = 50 µm.
Date
Source https://www.sciencedirect.com/science/article/pii/S0960896621006052
Author Michael W. Lawlor , James J. Dowling

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current22:29, 10 April 2023Thumbnail for version as of 22:29, 10 April 2023527 × 693 (213 KB)Ozzie10aaaaUploaded a work by Michael W. Lawlor , James J. Dowling from https://www.sciencedirect.com/science/article/pii/S0960896621006052 with UploadWizard

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